GCNT2

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]本基因编码负责形成I型血抗原的酶。I型抗原与i型抗原分别通过线性与分支状多N-乙酰乳糖胺聚糖相区分。编码的蛋白质为I型分支酶，即β-1,6-N-乙酰葡萄糖胺基转移酶，该酶负责在胚胎发育期间将胎儿i型抗原转化为红细胞中的成年I型抗原。该基因的突变与成年i型血型表型相关联。此外，已描述了编码不同异构体的选择性剪接转录本变体。[由RefSeq提供，2008年7月]

搜集汇总

背景与挑战

背景概述

GCNT2基因编码的酶负责形成血型I抗原，在胚胎发育过程中将胎儿i抗原转换为成人I抗原，其突变与成人i血型表型相关。该基因存在可变剪接的转录本变体，涉及血型系统的生物学基础。